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Issue Date
Title
Author(s)
2013
The UPF3B gene, implicated in intellectual disability, autism, ADHD and childhood onset schizophrenia regulates neural progenitor cell behaviour and neuronal outgrowth
Jolly, L.
;
Homan, C.
;
Jacob, R.
;
Barry, S.
;
Gecz, J.
2014
Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations
Scheffer, I.
;
Heron, S.
;
Regan, B.
;
Mandelstam, S.
;
Crompton, D.
;
Hodgson, B.
;
Licchetta, L.
;
Provini, F.
;
Bisulli, F.
;
Vadlamudi, L.
;
Gecz, J.
;
Connelly, A.
;
Tinuper, P.
;
Ricos, M.
;
Berkovic, S.
;
Dibbens, L.
2015
Interchromosomal insertional translocation at Xq26.3 alters SOX3 expression in an individual with XX male sex reversal
Haines, B.
;
Hughes, J.
;
Corbett, M.
;
Shaw, M.
;
Innes, J.
;
Patel, L.
;
Gecz, J.
;
Clayton-Smith, J.
;
Thomas, P.
2015
Developmental disorders: deciphering exomes on a grand scale
Gecz, J.
;
Corbett, M.
2008
Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes
Jaekle Santos, L.
;
Xing, C.
;
Barnes, R.
;
Ades, L.
;
Megarbane, A.
;
Vidal, C.
;
Xuereb, A.
;
Tarpey, P.
;
Smith, R.
;
Khazab, M.
;
Shoubridge, C.
;
Partington, M.
;
Futreal, P.
;
Stratton, M.
;
Gecz, J.
;
Zinn, A.
2006
Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation
Hagens, O.
;
Dubos, A.
;
Abidi, F.
;
Barbi, G.
;
Van Zutven, L.
;
Hoeltzenbein, M.
;
Tommerup, N.
;
Moraine, C.
;
Fryns, J.
;
Chelly, J.
;
van Bokhoven, H.
;
Gecz, J.
;
Dollfus, H.
;
Ropers, H.
;
Schwartz, C.
;
de Cassia Stocco dos Santos, R.
;
Kalscheuer, V.
;
Hanauer, A.
2001
Fragile XE-associated familial mental retardation protein 2 (FMR2) acts as a potent transcription activator
Hillman, M.
;
Gecz, J.
2013
A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX
Poeta, L.
;
Fusco, F.
;
Drongitis, D.
;
Shoubridge, C.
;
Manganelli, G.
;
Filosa, S.
;
Paciolla, M.
;
Courtney, M.
;
Collombat, P.
;
Lioi, M.
;
Gecz, J.
;
Ursini, M.
;
Miano, M.
2012
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome
Heron, S.
;
Grinton, B.
;
Kivity, S.
;
Afawi, Z.
;
Zuberi, S.
;
Hughes, J.
;
Pridmore, C.
;
Hodgson, B.
;
Iona, X.
;
Sadleir, L.
;
Pelekanos, J.
;
Herlenius, E.
;
Goldberg-Stern, H.
;
Bassan, H.
;
Haan, E.
;
Korczyn, A.
;
Gardner, A.
;
Corbett, M.
;
Gecz, J.
;
Thomas, P.
;
et al.
2010
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly
Giannandrea, M.
;
Bianchi, V.
;
Mignogna, M.
;
Sirri, A.
;
Carrabino, S.
;
D'Elia, E.
;
Vecellio, M.
;
Russo, S.
;
Cogliati, F.
;
Larizza, L.
;
Ropers, H.
;
Tzschach, A.
;
Kalscheuer, V.
;
Oehl-Jaschkowitz, B.
;
Skinner, C.
;
Schwartz, C.
;
Gecz, J.
;
Van Esch, H.
;
Raynaud, M.
;
Chelly, J.
;
et al.
Discover
Author
12
Haan, E.
12
Ropers, H.
11
Kalscheuer, V.
10
Fryns, J.
9
Chelly, J.
9
et al.
9
Moraine, C.
9
Shoubridge, C.
8
Shaw, M.
8
Turner, G.
.
next >
Subject
53
Male
48
Mutation
43
Female
29
Intellectual Disability
29
Pedigree
26
Animals
26
Molecular Sequence Data
22
Chromosomes, Human, X
21
Transcription Factors
20
Mental Retardation, X-Linked
.
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Date issued
1
2020 - 2021
33
2010 - 2019
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2000 - 2009
3
1997 - 1999